Canonical Allele Identifier: CA400062862

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024065G>T (hg19) ; chr17:g.47946699G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946699G>T , CM000679.2:g.47946699G>T	GRCh38
NC_000017.10:g.46024065G>T , CM000679.1:g.46024065G>T	GRCh37
NC_000017.9:g.43379064G>T	NCBI36
NG_008744.1:g.10177G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.574G>T	ENSP00000225573.5:p.Gly192Cys
ENST00000434554.7:c.649G>T	ENSP00000399960.3:p.Gly217Cys
ENST00000582171.6:c.*368G>T	ENSP00000463994.1:n.*368G>T
ENST00000583599.6:c.463G>T	ENSP00000463919.2:p.Gly155Cys
ENST00000584061.6:c.634G>T	ENSP00000463972.2:p.Gly212Cys
ENST00000584806.2:n.372G>T
ENST00000641285.1:n.483G>T
ENST00000641305.1:n.2202G>T
ENST00000641323.1:c.*722G>T	ENSP00000492965.1:n.*722G>T
ENST00000641427.1:n.703G>T
ENST00000641511.1:c.435G>T
ENST00000641703.1:c.419G>T	ENSP00000493219.1:n.419G>T
ENST00000641709.1:c.*525G>T	ENSP00000493349.1:n.*525G>T
ENST00000641856.1:c.*1211G>T	ENSP00000493224.1:n.*1211G>T
ENST00000642017.2:c.703G>T MANE Select	ENSP00000493302.2:p.Gly235Cys
ENST00000225573.4:c.703G>T	ENSP00000225573.4:p.Gly235Cys
ENST00000434554.6:c.574G>T	ENSP00000399960.2:p.Gly192Cys
ENST00000582171.5:c.*368G>T	ENSP00000463994.1:n.*368G>T
ENST00000584806.1:n.372G>T
ENST00000585320.5:c.*185G>T	ENSP00000462345.1:n.*185G>T
NM_018129.3:c.703G>T	NP_060599.1:p.Gly235Cys
XM_005257500.2:c.463G>T	XP_005257557.1:p.Gly155Cys
XM_011524968.1:c.418G>T	XP_011523270.1:p.Gly140Cys
XM_005257500.3:c.463G>T	XP_005257557.1:p.Gly155Cys
XM_011524968.2:c.418G>T	XP_011523270.1:p.Gly140Cys
XM_017024813.1:c.463G>T	XP_016880302.1:p.Gly155Cys
NM_018129.4:c.703G>T MANE Select	NP_060599.1:p.Gly235Cys